Au-Kline Syndrome (AUKS)

Au-Kline Syndrome, also known as okamoto syndrome, is related to neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion and kabuki syndrome 1. An important gene associated with Au-Kline Syndrome is HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K). Affiliated tissues include tongue and heart, and related phenotypes are intellectual disability and hypotonia